A425T Summary
SCN5A A425T was found in 1 paper (see below) with a total of 1 carrier: 0 had BrS1, 1 had LQT3, and 0 had other disease. A425T is not present in gnomAD. A425T has been functionally characterized in 0 papers. Other variants at the same resdue are A425D .A425G .A425P .A425S .A425T .A425V .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
A425T Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
30059973 | 2018 | 0 | 0 | 1 | 0 | |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
A425T Predictions
PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.
SIFT |
Sift Score |
PROVEAN Score |
Polyphen2 |
Polyphen2 Score |
eaRate |
blastPssm |
pamScore |
REVEL |
Damaging |
0.021 |
-1.53 |
probablydamaging |
0.985 |
1.01 |
-0.97 |
-1 |
0.512 |
A425T has 30 neighbors within 15 ångströms that have been found in individuals.
A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.
ResidueNumber |
Distance(Å) |
Variants |
410 |
14.7 |
|
411 |
14.2 |
V411M |
412 |
13.7 |
|
413 |
13.2 |
A413T |
414 |
12.6 |
|
415 |
12 |
|
416 |
11.4 |
Y416C |
417 |
10.7 |
|
418 |
10.1 |
|
419 |
9.3 |
|
420 |
8.5 |
|
421 |
7.6 |
|
422 |
6.6 |
|
423 |
5.4 |
|
424 |
3.8 |
I424M |
426 |
3.8 |
|
427 |
5.4 |
|
428 |
6.6 |
E428K |
429 |
7.6 |
E429K p.E429del |
430 |
8.5 |
|
431 |
9.3 |
|
432 |
10.1 |
|
433 |
10.7 |
R433C |
434 |
11.4 |
|
435 |
12 |
|
436 |
12.6 |
|
437 |
13.2 |
|
438 |
13.7 |
|
439 |
14.2 |
|
440 |
14.7 |
|